A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972052



Internal ID2419669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130841097..130848775hg38UCSC Ensembl
Innerchr7:130841103..130848770hg38UCSC Ensembl
Outerchr7:130841092..130848781hg38UCSC Ensembl
chr7:130525856..130533534hg19UCSC Ensembl
Innerchr7:130525862..130533529hg19UCSC Ensembl
Outerchr7:130525851..130533540hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg387679
hg197679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615028
Supporting Variants
SamplesHG02140
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12972052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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